Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

[1]  R. Finkel,et al.  218th ENMC International Workshop: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19–21 February 2016 , 2017, Neuromuscular Disorders.

[2]  R. Finkel,et al.  Stakeholder collaboration for spinal muscular atrophy therapy development , 2017, The Lancet Neurology.

[3]  G. La Rosa,et al.  Magnetically Controlled Growing Rods for the Management of Early-onset Scoliosis: A Preliminary Report , 2017, Journal of pediatric orthopedics.

[4]  R. Finkel,et al.  Spinal Muscular Atrophy Type I , 2017, Journal of child neurology.

[5]  A. Beaudet,et al.  The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing , 2017, Genetics in Medicine.

[6]  R. Finkel,et al.  Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study , 2016, The Lancet.

[7]  L. Miladi,et al.  Prevention and treatment of scoliosis by Garches Brace in children with type Ib SMA , 2016 .

[8]  N. Figueiredo,et al.  The use of magnetically controlled growing rod device for pediatric scoliosis , 2016, Neurosciences.

[9]  R. Finkel,et al.  Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials , 2015, Neuromuscular Disorders.

[10]  K. Swoboda,et al.  Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II. , 2015, The Journal of pediatrics.

[11]  E. Bertini,et al.  Orthopedic Management of Scoliosis by Garches Brace and Spinal Fusion in SMA Type 2 Children , 2015, Journal of neuromuscular diseases.

[12]  J. Montes,et al.  Single-Blind, Randomized, Controlled Clinical Trial of Exercise in Ambulatory Spinal Muscular Atrophy: Why are the Results Negative? , 2015, Journal of neuromuscular diseases.

[13]  B. Ilharreborde,et al.  Fusionless surgery in early-onset scoliosis. , 2015, Orthopaedics & traumatology, surgery & research : OTSR.

[14]  J. Carey,et al.  Resistance strength training exercise in children with spinal muscular atrophy , 2015, Muscle & nerve.

[15]  K. Baldwin,et al.  Neuromuscular scoliosis and pelvic fixation in 2015: Where do we stand? , 2015, World journal of orthopedics.

[16]  J. Vissing,et al.  Training improves oxidative capacity, but not function, in spinal muscular atrophy type III , 2015, Muscle & nerve.

[17]  B. Snyder,et al.  Parasol Rib Deformity in Hypotonic Neuromuscular Scoliosis: A New Radiographical Definition and a Comparison of Short-term Treatment Outcomes With VEPTR and Growing Rods , 2015, Spine.

[18]  G. Comi,et al.  Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy. , 2015, JAMA neurology.

[19]  M. Schroth,et al.  Nutritional Practices at a Glance , 2014, Journal of child neurology.

[20]  W. Chung,et al.  Observational study of spinal muscular atrophy type I and implications for clinical trials , 2014, Neurology.

[21]  F. Muntoni,et al.  Improvement of Pulmonary Function in Children With Early-Onset Scoliosis Using Magnetic Growth Rods , 2014, Spine.

[22]  M. Gurney,et al.  The effect of diet on the protective action of D156844 observed in spinal muscular atrophy mice , 2014, Experimental Neurology.

[23]  Kristine C. Jordan,et al.  Vitamin D Intake Is Inadequate in Spinal Muscular Atrophy Type I Cohort , 2014, Journal of child neurology.

[24]  M. Bowerman,et al.  Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology , 2014, Human molecular genetics.

[25]  K. Swoboda,et al.  Perceptions of Equine-Assisted Activities and Therapies by Parents and Children With Spinal Muscular Atrophy , 2014, Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association.

[26]  G. Haaker,et al.  The Application of Clinical Genetics Dovepress Proximal Spinal Muscular Atrophy: Current Orthopedic Perspective , 2022 .

[27]  J. Forst,et al.  Natural course of scoliosis in proximal spinal muscular atrophy type II and IIIa: descriptive clinical study with retrospective data collection of 126 patients , 2013, BMC Musculoskeletal Disorders.

[28]  M. Main,et al.  Six minute walk test in type III spinal muscular atrophy: A 12month longitudinal study , 2013, Neuromuscular Disorders.

[29]  R. Écochard,et al.  Responsiveness of the motor function measure in patients with spinal muscular atrophy. , 2013, Archives of physical medicine and rehabilitation.

[30]  J. Bach,et al.  Posterior Spinal Fusion in Children With Flaccid Neuromuscular Scoliosis: The Role of Noninvasive Positive Pressure Ventilatory Support , 2013, Journal of pediatric orthopedics.

[31]  Petra Kaufmann,et al.  Independent Mobility After Early Introduction of a Power Wheelchair in Spinal Muscular Atrophy , 2013, Journal of child neurology.

[32]  R. Stockley,et al.  It’s more than just physical therapy: reported utilization of physiotherapy services for adults with neuromuscular disorders attending a specialist centre , 2013, Disability and rehabilitation.

[33]  H. Noordeen,et al.  Early results of a remotely-operated magnetic growth rod in early-onset scoliosis. , 2013, The bone & joint journal.

[34]  K. Swoboda,et al.  Observational study of caloric and nutrient intake, bone density, and body composition in infants and children with spinal muscular atrophy type I , 2012, Neuromuscular Disorders.

[35]  W. Chung,et al.  Prospective cohort study of spinal muscular atrophy types 2 and 3 , 2012, Neurology.

[36]  J. Forst,et al.  Operative treatment of scoliosis in proximal spinal muscular atrophy: results of 41 patients , 2012, Archives of Orthopaedic and Trauma Surgery.

[37]  C. McDonald,et al.  Prevention and management of limb contractures in neuromuscular diseases. , 2012, Physical medicine and rehabilitation clinics of North America.

[38]  M. Bowerman,et al.  Glucose metabolism and pancreatic defects in spinal muscular atrophy , 2012, Annals of neurology.

[39]  A. Leet,et al.  Spinal Muscular Atrophy: Manifestations and Management , 2012, The Journal of the American Academy of Orthopaedic Surgeons.

[40]  Dino Samartzis,et al.  Magnetically controlled growing rods for severe spinal curvature in young children: a prospective case series , 2012, The Lancet.

[41]  E. Bertini,et al.  Childhood spinal muscular atrophy: controversies and challenges , 2012, The Lancet Neurology.

[42]  Y. Jong,et al.  Prevalence and risk factors for feeding and swallowing difficulties in spinal muscular atrophy types II and III. , 2012, The Journal of pediatrics.

[43]  P. Huddleston.  Growing Rods for Scoliosis in Spinal Muscular Atrophy: Structural Effects, Complications, and Hospital Stays , 2012 .

[44]  J. Yang,et al.  Surgical Correction of Paralytic Neuromuscular Scoliosis With Poor Pulmonary Functions , 2011, Journal of spinal disorders & techniques.

[45]  W. Chung,et al.  Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year. , 2011, Archives of neurology.

[46]  R. Finkel,et al.  Assessing upper limb function in nonambulant SMA patients: Development of a new module , 2011, Neuromuscular Disorders.

[47]  J. McCarthy,et al.  Early Treatment of Scoliosis With Growing Rods in Children With Severe Spinal Muscular Atrophy: A Preliminary Report , 2011, Journal of pediatric orthopedics.

[48]  J. Forst,et al.  Use of orthoses and orthopaedic technical devices in proximal spinal muscular atrophy. Results of survey in 194 SMA patients , 2011, Disability and rehabilitation. Assistive technology.

[49]  J. Forst,et al.  Contractures of the lower extremities in spinal muscular atrophy type II. Descriptive clinical study with retrospective data collection. , 2011, Ortopedia, traumatologia, rehabilitacja.

[50]  Yasser Salem,et al.  Aquatic Therapy for a Child with Type III Spinal Muscular Atrophy: A Case Report , 2010, Physical & occupational therapy in pediatrics.

[51]  M. Schroth,et al.  SMA CARNI-VAL Trial Part I: Double-Blind, Randomized, Placebo-Controlled Trial of L-Carnitine and Valproic Acid in Spinal Muscular Atrophy , 2010, PloS one.

[52]  J. Montes,et al.  Bioelectrical Impedance Analysis Can Be a Useful Screen for Excess Adiposity in Spinal Muscular Atrophy , 2010, Journal of child neurology.

[53]  W. Chung,et al.  Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy , 2010, Neurology.

[54]  R. Finkel,et al.  The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability , 2010, Neuromuscular Disorders.

[55]  J. Forst,et al.  Contractures of the upper extremities in spinal muscular atrophy type II. Descriptive clinical study with retrospective data collection. , 2010, Ortopedia, traumatologia, rehabilitacja.

[56]  C. Lorson,et al.  Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy. , 2010, Biochemical and biophysical research communications.

[57]  E. Bertini,et al.  SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR , 2010, European Journal of Human Genetics.

[58]  R. Quinlivan,et al.  Implementation of “the consensus statement for the standard of care in spinal muscular atrophy” when applied to infants with severe type 1 SMA in the UK , 2009, Archives of Disease in Childhood.

[59]  B. Maria,et al.  Bone loss in survival motor neuron (Smn−/− SMN2) genetic mouse model of spinal muscular atrophy , 2009, The Journal of pathology.

[60]  D. Skaggs,et al.  Pelvic Fixation of Growing Rods: Comparison of Constructs , 2009, Spine.

[61]  D. Vivo,et al.  Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy , 2009, Neuromuscular Disorders.

[62]  M. Schroth,et al.  Phase II Open Label Study of Valproic Acid in Spinal Muscular Atrophy , 2009, PloS one.

[63]  N. Darín,et al.  A population‐based study of genotypic and phenotypic variability in children with spinal muscular atrophy , 2009, Acta paediatrica.

[64]  L. Boitano.  Equipment Options for Cough Augmentation, Ventilation, and Noninvasive Interfaces in Neuromuscular Respiratory Management , 2009, Pediatrics.

[65]  M. Schroth,et al.  Early laparoscopic fundoplication and gastrostomy in infants with spinal muscular atrophy type I. , 2008, Journal of pediatric surgery.

[66]  Barrington G. Burnett,et al.  Sustained improvement of spinal muscular atrophy mice treated with trichostatin a plus nutrition , 2008, Annals of neurology.

[67]  S. Iannaccone,et al.  Low Bone Mineral Density in Spinal Muscular Atrophy , 2008, Journal of clinical neuromuscular disease.

[68]  Mitchell R Lunn,et al.  Spinal muscular atrophy , 2008, The Lancet.

[69]  P. D. Rose,et al.  Feeding problems and malnutrition in spinal muscular atrophy type II , 2008, Neuromuscular Disorders.

[70]  G. Levy,et al.  The changing natural history of spinal muscular atrophy type 1 , 2007, Neurology.

[71]  Ching H. Wang,et al.  Consensus Statement for Standard of Care in Spinal Muscular Atrophy , 2007, Journal of child neurology.

[72]  B. Maria,et al.  Congenital Bone Fractures in Spinal Muscular Atrophy: Functional Role for SMN Protein in Bone Remodeling , 2007, Journal of child neurology.

[73]  M. Leavitt,et al.  Department of Health and Human Services , 2007, Disaster Medicine and Public Health Preparedness.

[74]  B. Wirth,et al.  Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number , 2006, Human Genetics.

[75]  Tanvir R. Khan,et al.  Operative treatment for hip subluxation in spinal muscular atrophy. , 2005, The Journal of bone and joint surgery. British volume.

[76]  Mark B Bromberg,et al.  Natural history of denervation in SMA: Relation to age, SMN2 copy number, and function , 2005, Annals of neurology.

[77]  J. Forst,et al.  Treatment of scoliosis in intermediate spinal muscular atrophy (SMA type II) in childhood. , 2005, Ortopedia, traumatologia, rehabilitacja.

[78]  M. Muqit,et al.  Phenotypic variability in siblings with type III spinal muscular atrophy , 2004, Journal of Neurology, Neurosurgery & Psychiatry.

[79]  Sing Kai Lo,et al.  Joint range of motion limitations in children and young adults with spinal muscular atrophy. , 2004, Archives of physical medicine and rehabilitation.

[80]  R. Shiffman,et al.  Classifying Recommendations for Clinical Practice Guidelines , 2004, Pediatrics.

[81]  Jhp Hui,et al.  Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III , 2003, Journal of paediatrics and child health.

[82]  J. Vissing,et al.  Patients with severe muscle wasting are prone to develop hypoglycemia during fasting , 2003, Neurology.

[83]  R. Truog,et al.  Spinal muscular atrophy–type I , 2003, Archives of disease in childhood.

[84]  Brian G Smith,et al.  Hip dislocation in patients with spinal muscular atrophy. , 2003 .

[85]  T. Wienker,et al.  Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. , 2002, American journal of human genetics.

[86]  S. Reddy,et al.  Osteoclast-stimulating Factor Interacts with the Spinal Muscular Atrophy Gene Product to Stimulate Osteoclast Formation* , 2001, The Journal of Biological Chemistry.

[87]  B. Wirth.  An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA) , 2000, Human mutation.

[88]  T. Wienker,et al.  Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. , 1999, American journal of human genetics.

[89]  T. Crawford,et al.  Abnormal fatty acid metabolism in childhood spinal muscular atrophy , 1999, Annals of neurology.

[90]  B. Wirth,et al.  De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling. , 1997, American journal of human genetics.

[91]  L. Simard,et al.  SMN(T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype/phenotype correlations with disease severity. , 1997, American journal of medical genetics.

[92]  A. Burghes.  When is a deletion not a deletion? When it is converted. , 1997, American journal of human genetics.

[93]  J. Mendell,et al.  Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. , 1997, American journal of human genetics.

[94]  A. Oliveira,et al.  Spinal muscular atrophy type II (intermediary) and III (Kugelberg-Welander). Evolution of 50 patients with physiotherapy and hydrotherapy in a swimming pool. , 1996, Arquivos de neuro-psiquiatria.

[95]  E. Velasco,et al.  Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype. , 1996, Human molecular genetics.

[96]  J. Kondrup,et al.  Hypogkycaemia in spinal muscular atrophy , 1995, The Lancet.

[97]  K. Davies,et al.  Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. , 1995, Human molecular genetics.

[98]  J. Weissenbach,et al.  Identification and characterization of a spinal muscular atrophy-determining gene , 1995, Cell.

[99]  J. Kondrup,et al.  Hypoglycaemia in spinal muscular atrophy. , 1995, Lancet.

[100]  D. Millington,et al.  Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: primary or secondary defect(s)? , 1995, Pediatric neurology.

[101]  A. Leet,et al.  Surgical Treatment of Scoliosis in a Spinal Muscular Atrophy Population , 1990, Spine.

[102]  C Schofield,et al.  An annotated bibliography of source material for basal metabolic rate data. , 1985, Human nutrition. Clinical nutrition.

[103]  David H. Gustafson,et al.  Group Techniques for Program Planning: A Guide to Nominal Group and Delphi Processes , 1976 .